Decoding the Genetic Landscape of Skeletal Diseases

This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.

NCT Number	NCT05876416
Lead Sponsor	Karolinska Institutet Collaborators: Karolinska University Hospital, Göteborg University
Conditions	Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes, Skeletal Disorder
Enrollment	450 participants
Start Date	2015-01-01
Primary Completion	2026-12-31 (estimated)
Study Completion	2026-12-31 (estimated)
Updated on ClinicalTrials.gov	2023-05-25